NCT05534139

Clinicopathological MRI and CSF Correlates in Huntington's Disease.

Clinicopathological MRI and CSF Correlates of Iron Accumulation, Neurodegeneration and Neuroinflammation in Huntington's Disease.

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 90 (estimated)
• Sponsor: Leiden University Medical Center · Academic / Other
• Sex: All
• Age: 21 Years – 75 Years
• Healthy volunteers: Accepted

Summary

In this study the investigators will link brain iron levels obtained from quantitative susceptibility maps of HD patients with specific and well-known clinical CSF markers for iron accumulation, neurodegeneration and neuroinflammation. The relationship between iron accumulation and neuroinflammation, and the clinical and genetic characteristics of HD will be investigated. This will provide an important basis for the evaluation of brain iron levels as an imaging biomarker for disease state in HD and their relationship with the salient pathomechanisms of the disease.

Detailed description

This investigator-initiated, single-site cross-sectional study looks at iron accumulation using 7T MR-imaging, CSF and blood. This will be achieved in a two-day visit involving clinical assessments, MRI-scanning of the brain, followed by a lumbar puncture the next day, after overnight fasting. Sixty-five volunteers with HD and 25 volunteers without HD will be included. Of these 65 volunteers with HD, 25 will be premanifest, 20 early manifest and 20 moderate manifest, in order to cover the wide-spectrum of Huntington's Disease.

Conditions

• Huntington Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	7T MRI-scan	MRI-scanning of the brain using a 7T-MRI scanner
DIAGNOSTIC_TEST	CSF collection via lumbar puncture	CSF is collected by doing a lumbar puncture
DIAGNOSTIC_TEST	Blood withdrawal	Blood is collected by doing a blood withdrawal
DIAGNOSTIC_TEST	Clinical measures	UHDRS-Total motor score, UHDRS-short problem behaviour assessment, UHDRS-Cognitive assessments

Timeline

• Start date: 2021-08-11
• Primary completion: 2023-08-31
• Completion: 2024-08-31
• First posted: 2022-09-09
• Last updated: 2022-09-09

Locations

1 site across 1 country: Netherlands